Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders

por SHAKIBA, Marjan, KERAMATIPOUR, Mohammad
Publicado 2018

Producing a Mammalian GFP Expression Vector Containing Neomycin Resistance Gene

por Izadi, Manizheh, Abiri, Maryam, Keramatipour, Mohammad
Publicado 2009

Effect of Embryonic Cerebrospinal Fluid on Proliferation and Differentiation of Neuroprogenitor Cells

por Yari, Siamak, Parivar, Kazem, Nabiuni, Mohammad, Keramatipour, Mohammad
Publicado 2013

Comparison of Two Different PCR-based Methods for Detection of GAA Expansions in Frataxin Gene

por ENTEZAM, Mona, AMIRFIROOZI, Akbar, TOGHA, Mansoureh, KERAMATIPOUR, Mohammad
Publicado 2017

Succinate Dehydrogenase Deficiency: A Treatable Neurometabolic Disorder

por KARIMZADEH, Parvaneh, KERAMATIPOUR, Mohammad, KARAMZADE, Arezou, POURBAKHTYARAN, Elham
Publicado 2020

A Case Series: Congenital Hyperinsulinism

por Alaei, Mohammad Reza, Akbaroghli, Susan, Keramatipour, Mohammad, Alaei, Ali
Publicado 2016

SPOAN syndrome: a novel mutation and new ocular findings; a case report

por Bazvand, Fatemeh, Keramatipour, Mohammad, Riazi-Esfahani, Hamid, Mahmoudi, Alireza
Publicado 2021

Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees

por Ahmadloo, Somayeh, Talebi, Saeed, Miryounesi, Mohammad, Pasalar, Parvin, Keramatipour, Mohammad
Publicado 2016

3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations

por Karimzadeh, Parvaneh, Saberi, Mohammad, Sheidaee, Kobra, Nourbakhsh, Mitra, Keramatipour, Mohammad
Publicado 2019

Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient

por Alaei, Mohammad Reza, Talebi, Saeed, Ghofrani, Mohammad, Taghizadeh, Mohsen, Keramatipour, Mohammad
Publicado 2016

Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation

por Zardadi, Safoura, Rayat, Sima, Hassani Doabsari, Maryam, Keramatipour, Mohammad, Morovvati, Saeid
Publicado 2021

A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations

por AMIRKASHANI, Davoud, ASADOLLAHI, Mostafa, HOSSEINI, Rozita, TALEBI, Saeed, GOLCHEHRE, Zahra, KERAMATIPOUR, Mohammad
Publicado 2023

Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient

por Alaei, Mohammad Reza, Kheirkhahan, Meghdad, Talebi, Saeed, Davoudi-Dehaghani, Elham, Keramatipour, Mohammad
Publicado 2020

PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data()

por Entezam, Mona, Khatami, Mohammad Reza, Saddadi, Fereshteh, Ayati, Mohsen, Roozbeh, Jamshid, Keramatipour, Mohammad
Publicado 2016

X-linked SCID with a rare mutation

por Mahdavi, Fatemeh Sadat, Keramatipour, Mohammad, Ansari, Sarina, Sharafian, Samin, Karamzade, Arezou, Tavakol, Marzieh
Publicado 2021

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome

por Bitarafan, Fatemeh, Razmara, Ehsan, Khodaeian, Mehrnoosh, Keramatipour, Mohammad, Kalhor, Alireza, Jafarinia, Ehsan, Garshasbi, Masoud
Publicado 2020

Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient

por Alizadeh, Rasoul, Jamshidi, Sanaz, Keramatipour, Mohammad, Moeinian, Parisa, Hosseini, Rozita, Otukesh, Hasan, Talebi, Saeed
Publicado 2020

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report

por Zardadi, Safoura, Rayat, Sima, Doabsari, Maryam Hassani, Alishiri, Aliagha, Keramatipour, Mohammad, Shahri, Zeynab Javanfekr, Morovvati, Saeid
Publicado 2021

Analysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran

por Mehdizadeh Hakkak, Atieh, Keramatipour, Mohammad, Talebi, Saeid, Brook, Azam, Tavakol Afshari, Jalil, Raazi, Amin, Kianifar, Hamid Reza
Publicado 2013

Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report

por RAZIPOUR, Masoumeh, KOOSHAVAR, Daniz, ALAVINEJAD, Elaheh, SAJEDI, Seyede Zahra, MOHAJER, Neda, SETOODEH, Aria, TALEBI, Saeed, KERAMATIPOUR, Mohammad
Publicado 2017